A genetic epidemiological study of carcinoma of the fallopian tube.

Objective: The goal of this work was to evaluate the importance of genetic factors in the etiology of fallopian tube cancer.

Methods: All pathologically confirmed cases of fallopian tube cancer diagnosed in Ontario from 1990 to 1998 were identified from the records of the Ontario Cancer Registry. Living patients were approached to provide information about their family history and to provide a blood sample for testing for mutations in BRCA1 and BRCA2.

Results: A modest increase in the risk of ovarian cancer (relative risk (RR) = 2.2; 95% confidence interval (CI) = 0.4, 6.3) and of early-onset breast cancer (RR = 2.4; 95% CI = 0.6, 6.1) was observed in the first-degree relatives of the fallopian cancer cases. Five of the forty-four cases were positive for a mutation in BRCA1 (11%) and two were positive for a BRCA2 mutation (5%). Five of eighteen women diagnosed at or before age 55 were positive (28%). Two of the seven mutation carriers had a strong family history of breast and ovarian cancer, and three carriers had a modest family history. Three of the forty-four cases were Jewish, and of these, two carried a founder mutation characteristic of this population.

Conclusions: Fallopian tube carcinoma should be considered to be a clinical component of the hereditary breast-ovarian cancer syndrome, and may be associated with BRCA1 and BRCA2 mutations. Genetic evaluation should be offered to women who present with fallopian tube carcinoma. It is important to consider the risk of fallopian tube carcinoma when prophylactic oophorectomy is performed in high-risk women.